Canonical Allele Identifier: CA6328636

Gene: SORL1

Linked Data

• dbSNP Id: rs759465804
• ExAC: 11:121393385 T / A
• gnomAD v2: 11-121393385-T-A
• gnomAD v4: 11-121522676-T-A
• MyVariant Identifiers: chr11:g.121393385T>A (hg19) ; chr11:g.121522676T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.121522676T>A , CM000673.2:g.121522676T>A	GRCh38
NC_000011.9:g.121393385T>A , CM000673.1:g.121393385T>A	GRCh37
NC_000011.8:g.120898595T>A	NCBI36
NG_023313.1:g.75425T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260197.12:c.1495T>A MANE Select	ENSP00000260197.6:p.Ser499Thr
ENST00000260197.11:c.1495T>A	ENSP00000260197.6:p.Ser499Thr
ENST00000532451.1:n.1447T>A
NM_003105.5:c.1495T>A	NP_003096.1:p.Ser499Thr
XM_011542963.1:c.1495T>A	XP_011541265.1:p.Ser499Thr
XM_011542964.1:c.1495T>A	XP_011541266.1:p.Ser499Thr
XM_011542965.1:c.-128T>A	XP_011541267.1:n.-128T>A
XM_011542963.3:c.1495T>A	XP_011541265.1:p.Ser499Thr
XM_011542965.3:c.-128T>A	XP_011541267.1:n.-128T>A
XM_017018169.2:c.1183T>A	XP_016873658.1:p.Ser395Thr
XM_017018170.2:c.970T>A	XP_016873659.1:p.Ser324Thr
XM_017018171.1:c.1495T>A	XP_016873660.1:p.Ser499Thr
NM_003105.6:c.1495T>A MANE Select	NP_003096.2:p.Ser499Thr